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Anaplastic diffuse leptomeningeal glioneuronal tumor associated with H3 K27M mutation 与H3 K27M突变相关的无定形弥漫性软脑膜胶质神经元肿瘤
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200296
Shoh Sasaki , Takanori Hirose , Sumihito Nobusawa , Tomoya Myojin , Kohei Morita , Tokiko Nakai , Junko Hirato , Chiho Ohbayashi
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引用次数: 2
Malignant myoepithelioma of the breast (MMB); An interesting case report with pathological, immunohistochemical findings and review of literature 乳腺恶性肌上皮瘤;一个有趣的病例报告,病理,免疫组织化学结果和文献回顾
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200301
Ola A. Harb , Ahmed A. Obaya , Taha A. Baiomy , Loay M. Gertallah , Sherif Y. Yousif

Background

Malignant myoepithelioma (MMB) of the breast is an extremely rare and aggressive malignant tumor. The biological behavior of such malignancy and treatment outcomes of patients has not been clearly determined.

Hypothesis

MMB is morphologically difficult to be distinguished from benign spindle cell proliferations. Identification and further research on the genesis of these tumors could help to discover new molecular targets for its management.

Case report

We herein describe the pathological and immunohistochemical characteristics of a case of MMB in a 51 year-old woman to add to the previous data about biological behavior and management strategy of such a rare aggressive entity.

We have confirmed the diagnosis of our case using immunohistochemisrty because malignant cells revealed diffuse expression of P63, SMA and S-100 in addition to high Ki-67 labeling index.

Conclusions

MMB is extremely rare entity which showed be suspected during differential diagnosis of any malignant spindle cell tumor of the breast.

背景:乳腺恶性肌上皮瘤(MMB)是一种极其罕见的侵袭性恶性肿瘤。这种恶性肿瘤的生物学行为和患者的治疗结果尚未明确确定。假设mmb在形态学上难以与良性梭形细胞增生区分开。识别和进一步研究这些肿瘤的发生可能有助于发现新的分子靶点来治疗它。病例报告我们在此描述一例51岁 女性MMB病例的病理和免疫组织化学特征,以补充以往关于这种罕见侵袭性实体的生物学行为和管理策略的数据。我们已经用免疫组织化学证实了我们病例的诊断,因为恶性细胞除了高Ki-67标记指数外,还显示P63, SMA和S-100的弥漫表达。结论smmb是一种极为罕见的肿瘤,在乳腺恶性梭形细胞瘤的鉴别诊断中值得怀疑。
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引用次数: 1
Small bowel obstruction exacerbated by barium sulfate administration 硫酸钡加重了小肠梗阻
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.ehpc.2019.200315
Whitney L. Reid DO , Jesse L. Cox MD, PhD , Karen L. Pennington , Philip McCarthy DO , Vishal M. Kothari MD, FACS , Samuel M. Cohen MD, PhD

Small bowel obstruction (SBO) is a commonly encountered medical condition, typically a result of extrinsic causes, including post-operative adhesions. Less frequently, intrinsic and intraluminal factors may cause obstruction. Barium sulfate is a widely used contrast agent for radiography of suspected SBO, though it is rarely encountered in histologic sections and is an uncommon cause of SBO. Here, we present a case of a patient with several risk factors for SBO who received routine diagnostic imaging. Surgical resection revealed gross adhesions and histology showed intraluminal foreign material, determined to be barium sulfate by scanning electron microscopy with energy dispersive x-ray spectroscopy.

小肠梗阻(SBO)是一种常见的医学疾病,通常是由外因引起的,包括术后粘连。不太常见的是,内在因素和腔内因素可引起梗阻。硫酸钡是一种广泛使用的造影剂,用于可疑SBO的x线摄影,尽管它在组织学切片中很少遇到,并且是SBO的罕见原因。在这里,我们提出一个病例的病人有几个危险因素的SBO谁接受常规诊断成像。手术切除发现大体粘连,组织学显示腔内异物,扫描电镜和能量色散x射线光谱确定为硫酸钡。
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引用次数: 2
Langerhans Cell Histiocytosis, Non-Langerhans histiocytosis and concurrent Papillary Thyroid Carcinoma with BRAF V600E mutations: A case report and literature review 朗格汉斯细胞组织细胞增多症、非朗格汉斯组织细胞增多症及合并BRAF V600E突变的甲状腺乳头状癌1例报告及文献复习
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200302
Laura Wake MD , Liqiang Xi MD , Mark Raffeld MD , Elaine S. Jaffe MD
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引用次数: 3
The diagnostic value of detection of high-risk HPV in differentiating primary bladder cancer versus uterine cervical cancer involving bladder - A case report 高危型人乳头状瘤病毒检测对原发性膀胱癌症与子宫颈癌症合并膀胱的鉴别诊断价值
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200299
Haiying Zhan, Elizabeth Korangy, Ying Huang

Uterine cervical cancer can invade the urinary bladder at an advanced stage. Distinguishing between primary urothelial carcinoma and secondary carcinoma involving the bladder is extremely important because these two clinical settings have completely different management and prognosis. It can be very challenging for pathologists to determine the tumor origin, since the carcinomas in bladder and cervix have overlapping histological features and immunohistochemical profiles. Here we report a case of cervical carcinoma involving the urinary bladder in a woman with a remote history of cervical carcinoma. The diagnosis was confirmed by the aid of molecular detection of high-risk human papillomavirus 16/18 (HPV16/18).

宫颈癌可以在晚期侵入膀胱。区分原发性尿路上皮癌和继发性膀胱癌是非常重要的,因为这两种临床情况有完全不同的治疗和预后。由于膀胱癌和子宫颈癌具有重叠的组织学特征和免疫组织化学特征,病理学家很难确定肿瘤的起源。在这里我们报告一个病例宫颈癌累及膀胱的妇女与宫颈癌的远程历史。通过高危人乳头瘤病毒16/18 (HPV16/18)分子检测证实诊断。
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引用次数: 0
Adult Langerhans cell histiocytosis arising in colonic polyp: A case report and literature review 结肠息肉并发成人郎格罕细胞组织细胞增多症一例报告及文献复习
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.ehpc.2019.200311
Feras Zaiem MD, Rafic Beydoun MD

Langerhans cell histiocytosis (LCH) is a rare disease characterized by unifocal, or multifocal unisystem, or disseminated/multisystem disease that commonly involves the bone, skin and lung. LCH involvement of the gastrointestinal tract (GI) in adults is uncommon and it rarely involves colon polyps with only few case reports in the literature. In this report, we present a case of an adult female who was found to have a cecal polyp on a routine screening colonoscopy. The histopathological examination and immunohistochemical studies confirmed the diagnosis of LCH. We also review the literature of adults LCH manifested in GI mostly colonic polyps.

朗格汉斯细胞组织细胞增多症(LCH)是一种罕见的疾病,其特征是单灶性或多灶性单系统或播散性/多系统疾病,通常累及骨骼、皮肤和肺部。成人LCH累及胃肠道(GI)是罕见的,它很少涉及结肠息肉,文献中只有少数病例报道。在这个报告中,我们提出一个病例的成年女性谁被发现有盲肠息肉的常规筛查结肠镜检查。组织病理学检查和免疫组织化学检查证实了LCH的诊断。我们也回顾了成人LCH在胃肠道表现的文献,主要是结肠息肉。
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引用次数: 3
Unexpected DOG1 expression in gastrointestinal neuroectodermal tumor of the rectum: A diagnostic pitfall 直肠胃肠道神经外胚层肿瘤中DOG1的意外表达:一个诊断缺陷
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.ehpc.2019.200317
Cindy Bossenmeyer , Emilie Duchalais , Anne Moreau , Céline Bossard
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引用次数: 1
Multilocular cystic renal neoplasm of low malignant potential extending into the perinephric adipose tissue 低恶性潜能的多室囊性肾肿瘤,向肾周脂肪组织扩散
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200305
Khaled Abdelfattah Murshed, Mohammed Akhtar, Mohamed Ben-Gashir

Multilocular cystic renal neoplasm of low malignant potential (MCRNLMP) is a rare variant and a distinct subtype of clear cell renal cell tumors that has a favorable outcome. Most of the cases present with a low pathologic stage at diagnosis (T1 or T2). It is unusual for this tumor to extend into the perinephric adipose tissue, renal sinus fat or renal vein. There are very few cases reported in the literature to have a higher pathologic stage (pT3 and above) at diagnosis. Here, we report a case of MCRNLMP with unusual rare finding in which the tumor has extended into the surrounding perinephric adipose tissue.

低恶性潜能多室囊性肾肿瘤(MCRNLMP)是透明细胞肾细胞肿瘤中一种罕见的变异和独特的亚型,具有良好的预后。多数病例诊断时病理分期较低(T1或T2)。这种肿瘤很少扩散到肾周脂肪组织、肾窦脂肪或肾静脉。很少有文献报道的病例在诊断时具有较高的病理分期(pT3及以上)。在这里,我们报告一例罕见的MCRNLMP病例,肿瘤已经扩展到周围的肾周脂肪组织。
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引用次数: 2
A case of clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) with two EWSR1-ATF1 fusions 2例EWSR1-ATF1融合的胃肠道透明细胞肉瘤样肿瘤1例
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.hpcr.2019.200300
Ai Ito , Masako Kurashige , Hideki Murakami , Tomomi Koide , Ryota Ando , Ayami Kominami-Kiriyama , Masahiko Fujino , Masafumi Ito

Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is an extremely rare mesenchymal tumor arising from the gastrointestinal tract. We report a case of CCSLGT with two fusion transcripts of EWSR1-ATF1. A 60-year-old female received ileectomy because of repeated ileus history. A 30-mm submucosal tumor with mucosal ulceration was detected in the ileum. Histologically, sarcomatous tumor comprised relatively monomorphic tumor cells arranged in sheets or nests and several multinucleated osteoclast-like giant cells. The main tumor cells contain small round nuclei with prominent nucleoli and abundant clear cytoplasm. Immunohistochemistry, the tumor cells expressed S-100 protein diffusely and focally expressed CAM5.2, EMA, and CD56. They did not express HMB-45, c-kit, CD34, desmin, and α-SMA. FISH analysis revealed EWSR1 split signal in the tumor cells. Reverse transcription polymerase chain reaction (RT-PCR) revealed 2 types of EWSR1-ATF1 transcripts, including EWSR1 exon 7-ATF1 exon 5 and EWSR1 exon 6-ATF1 exon 5. EWSR1-CREB1 was not detected. We finally diagnosed CCSLGT as well as identified two types of fusion transcript of EWSR1-ATF1.

胃肠道透明细胞肉瘤样肿瘤(CCSLGT)是一种极为罕见的发生于胃肠道的间质肿瘤。我们报告一例具有两个EWSR1-ATF1融合转录本的CCSLGT。一位60岁女性因反复肠梗阻病史接受回肠切除术。在回肠发现一30毫米粘膜下肿瘤伴粘膜溃疡。在组织学上,肉瘤肿瘤由相对单一的呈片状或巢状排列的肿瘤细胞和若干多核的破骨细胞样巨细胞组成。主要肿瘤细胞有小而圆的核,核仁突出,胞质丰富透明。免疫组化:肿瘤细胞弥漫性表达S-100蛋白,局灶性表达CAM5.2、EMA、CD56。它们不表达HMB-45、c-kit、CD34、desmin和α-SMA。FISH分析显示肿瘤细胞中存在EWSR1分裂信号。逆转录聚合酶链反应(RT-PCR)检测到EWSR1- atf1 2种转录本,分别为EWSR1外显子7-ATF1外显子5和EWSR1外显子6-ATF1外显子5。未检测到EWSR1-CREB1。我们最终诊断出CCSLGT,并鉴定出EWSR1-ATF1的两种融合转录物。
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引用次数: 1
Vasculitis manifested with multiple mass lesions in kidneys, lungs and soft tissue, mimicking malignant tumors 血管炎表现为肾脏、肺部和软组织多处肿块,类似恶性肿瘤
Q4 Medicine Pub Date : 2019-09-01 DOI: 10.1016/j.ehpc.2019.200312
Shunhua Guo MD , Mary Ann R. Domingo MD , Qin Chang MD, PhD , Jordan K. Swensson MD

We report a case of granulomatosis with polyangiitis (GPA) (Wegner's granulomatosis) who presented with multiple mass lesions in kidneys and lung lobes, as well as neck soft tissue, mimicking malignancies. This 71-year-old woman initially presented with sudden right foot drop, left calf pain and right eye vision loss. She was treated with corticosteroid for the diagnosis of possible temporal arteritis. Months after steroid was tapered to 2 mg per day, she developed increasing fatigue, weight loss, and shortness of breath. CT scan showed lung mass lesions in left upper lobe (3.8 × 2.4 cm), right mid lung with pleural extension (3.4 × 3.3 cm), and right lower lobe (1.1 × 1.0 cm); right neck (3.3 × 2.6 cm), right kidney (2.3 × 1.8 cm) and left kidney (2.0 × 1.6 cm). Right quadriceps muscle biopsy shows focal granulomatous inflammation. Lung biopsy showed necrotizing and poorly formed granulomatous inflammation. Biopsies of kidney mass lesions showed necrotizing and non-necrotizing granulomatous inflammation. No crescentic or necrotizing glomerular lesions were observed in the total 40 sampled glomeruli. No malignancy was identified in any of the biopsies. Her c-ANCA was found to be positive and PR3-ANCA antibody was 6.88 U/ml (normal 0–0.90 U/ml). She was diagnosed with granulomatosis with polyangiitis and treated with high dose corticosteroid and rituximab. Eight months later, follow-up showed resolved mass lesions by chest X-ray and CT and stable renal function. The case highlights the atypical clinical presentation of vasculitis and the significance of considering this possibility in differential diagnosis when confronting mass lesions present in multiple organ systems. Biopsy is critical for the correct diagnosis to initiate timely and appropriate treatment, and also important to avoid unnecessary surgical resection.

我们报告一例肉芽肿病合并多血管炎(GPA)(韦格纳肉芽肿病),其表现为肾脏和肺叶以及颈部软组织的多发肿块病变,模仿恶性肿瘤。这名71岁的女性最初表现为右脚突然下垂,左小腿疼痛和右眼视力下降。她接受皮质类固醇治疗以诊断可能的颞动脉炎。类固醇逐渐减少到每天2 毫克几个月后,她出现了越来越多的疲劳、体重减轻和呼吸短促。CT扫描显示,左肺上叶肺质量病变(3.8 ×  2.4厘米),右中叶肺与胸膜扩展(3.4 ×  3.3厘米),和右叶低(1.1 ×  1.0厘米);右颈部(3.3 ×  2.6厘米),右肾(2.3 × 1.8 厘米)和左肾(2.0 ×  1.6厘米)。右股四头肌活检显示局灶性肉芽肿性炎症。肺活检显示坏死和形成不良的肉芽肿性炎症。肾肿块的活检表现为坏死性和非坏死性肉芽肿性炎症。在总共40个样本肾小球中未观察到新月形或坏死性肾小球病变。所有活检均未发现恶性肿瘤。c-ANCA阳性,PR3-ANCA抗体6.88 U/ml(正常0-0.90 U/ml)。她被诊断为肉芽肿病合并多血管炎,并接受大剂量皮质类固醇和利妥昔单抗治疗。8个月后随访,胸部x线及CT显示肿块病灶消退,肾功能稳定。该病例强调了血管炎的非典型临床表现,以及在面对多器官系统肿块病变时考虑这种可能性的鉴别诊断意义。活检对于正确诊断和及时适当治疗至关重要,对于避免不必要的手术切除也很重要。
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引用次数: 0
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Human Pathology: Case Reports
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